A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047076



Internal ID18789607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:113393156..113442576hg38UCSC Ensembl
Innerchr13:114047471..114096891hg19UCSC Ensembl
Innerchr13:113095472..113144892hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3849421
hg1949421
hg1849421
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1744n100
Supporting Variantsnssv3525634, nssv3525635
Samples
Known GenesADPRHL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047076
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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